CCDC78 (coiled-coil domain containing 78)

2014-11-01  

Identity

HGNC
CCDC78
LOCATION
16p13.3
LOCUSID
124093
ALIAS
C16orf25,CNM4,JFP10,hsCCDC78

Other Information

Locus ID:

NCBI: 124093
MIM: 614666
HGNC: 14153
Ensembl: ENSG00000162004

Variants:

dbSNP: 124093
ClinVar: 124093
TCGA: ENSG00000162004
COSMIC: CCDC78

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000162004ENST00000293889A2IDD5
ENSG00000162004ENST00000345165H3BLT8
ENSG00000162004ENST00000423653I3L158
ENSG00000162004ENST00000650995A0A494C131

Expression (GTEx)

0
5
10
15
20
25
30
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

References

Pubmed IDYearTitleCitations
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.27
228188562012Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores.25

Citation

Dessen P

CCDC78 (coiled-coil domain containing 78)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61566/ccdc78